Canonical Allele Identifier: CA679350973

Gene: TPP1

Linked Data

• dbSNP Id: rs1482003032
• gnomAD v3: 11-6617075-AG-A
• gnomAD v4: 11-6617075-AG-A
• MyVariant Identifiers: chr11:g.6638307del (hg19) ; chr11:g.6617076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6617077del , CM000673.2:g.6617077del	GRCh38
NC_000011.9:g.6638308del , CM000673.1:g.6638308del	GRCh37
NC_000011.8:g.6594884del	NCBI36
NG_008653.1:g.7386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682424.1:c.472del	ENSP00000507321.1:p.Leu158CysfsTer5
ENST00000299427.12:c.586del MANE Select	ENSP00000299427.6:p.Leu196CysfsTer5
ENST00000428886.7:n.821del
ENST00000436873.7:c.312+225del
ENST00000524788.2:n.1745del
ENST00000524903.2:n.1861del
ENST00000528807.2:n.242del
ENST00000530040.2:n.479+283del
ENST00000533371.6:c.-144del	ENSP00000437066.1:n.-144del
ENST00000534644.6:n.534del
ENST00000642892.1:c.-144del	ENSP00000494165.1:n.-144del
ENST00000643439.1:c.*326del	ENSP00000495849.1:n.*326del
ENST00000643479.1:n.615del
ENST00000643516.1:c.395+225del
ENST00000644151.1:n.2025del
ENST00000644218.1:c.586del	ENSP00000493574.1:p.Leu196CysfsTer5
ENST00000644683.1:c.*39del	ENSP00000494085.1:n.*39del
ENST00000644810.1:c.307del	ENSP00000495895.1:p.Leu103CysfsTer5
ENST00000644831.1:n.762del
ENST00000644933.1:c.-144del	ENSP00000496133.1:n.-144del
ENST00000645020.1:n.1761del
ENST00000645285.1:c.-144del	ENSP00000495058.1:n.-144del
ENST00000645331.1:n.952del
ENST00000645620.1:c.-144del	ENSP00000493657.1:n.-144del
ENST00000646777.1:n.762del
ENST00000647016.1:n.1066del
ENST00000647152.1:c.-144del	ENSP00000495893.1:n.-144del
ENST00000647209.1:c.*455del	ENSP00000495558.1:n.*455del
ENST00000647346.1:n.1606del
ENST00000299427.10:c.586del	ENSP00000299427.6:p.Leu196CysfsTer5
ENST00000428886.6:n.755del
ENST00000436873.6:c.450+283del	ENSP00000398136.2:n.450+283del
ENST00000524788.1:n.286del
ENST00000528571.5:c.*326del	ENSP00000434647.1:n.*326del
ENST00000528807.1:n.136del
ENST00000533371.5:c.-144del	ENSP00000437066.1:n.-144del
ENST00000534644.5:n.571del
ENST00000611494.4:c.586del	ENSP00000484546.1:p.Leu196CysfsTer5
NM_000391.3:c.586del	NP_000382.3:p.Leu196CysfsTer5
NM_000391.4:c.586del MANE Select	NP_000382.3:p.Leu196CysfsTer5